Baby becomes youngest CHOP patient to receive gene therapy treatment for rare disease
A baby from Alaska became the youngest child at Children's Hospital of Philadelphia to get gene therapy for metachromatic leukodystrophy (MLD).
Its success depends on early diagnosis, which can be made through newborn screening tests. But the ability to get that testing can depend on where you live.
Nicholas and his parents are from a remote village in Alaska. They took four planes to get to Philadelphia for a chance to save him.
Nicholas was born with MLD, a rare and fatal genetic disease, where babies seem normal at birth, then lose the ability to move.
"It's a horrible and very sad disorder," said Dr. Laura Adang, who is a doctor at CHOP.
The family came to CHOP for the breakthrough new genetic treatment.
"It transforms and saves a life," Adang said. "It's beautiful."
While Nicholas was getting the therapy, his older sister Emily, who also has MLD, died. The treatment must start before symptoms begin, and it was too late for her. Their mom, Lizzie, said: "Him and Emily, they used to talk, crawl, eat fine."
Tragically, Lizzie also lost an older son to MLD five years ago.
"I have never met such a resilient, powerful family," Adang said.
Newborns can now be tested for MLD, which is how Nicholas was diagnosed.
"Without newborn screening, it's essentially universally missed," Adang said.
At 6 months old, Nicholas became the youngest MLD patient at CHOP to get the gene therapy. It starts with some of his bone marrow stem cells being removed.
"They're going to be doing chemotherapy to make room to get his modified genes back in him," Lizzie said.
That infusion of the repaired genes appears to be working.
"He stood up and walked to me," Adang said. "It was really one of the most incredible moments of my life. He was talking, walking, and doing all the things I expect a young toddler to do."
Now, the CHOP team is working to be able to save more children like Nicholas, but that that will depend on more states adding MLD to the standard blood test that newborns get.
"Our goal is to identify children at birth, so that we can do the gene therapy as a preventative treatment," Adang said.
Nicholas is now back in Alaska and doing well.
"Every milestone he gains, we will celebrate along with the family," Adang said.
Since Nicholas, CHOP has now treated seven other children with the MLD. The newborn screening for MLD is just in a few states so far, including New York and Pennsylvania.
